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thanatophoric dysplasia/epileptični krč
Povezava se shrani v odložišče
3 rezultatov
Thanatophoric Dysplasia
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Clinical characteristics: Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: Other features common to type I and type II include: short
Growth and development in thanatophoric dysplasia - an update 25 years later.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
UNASSIGNED
Thanatophoric dysplasia is typically a neonatal lethal condition. However, for those rare individuals who do survive, there is the development of seizures, progression of craniocervical stenosis, ventilator dependence, and limitations in motor and cognitive abilities. Families must be
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina
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